Variant report

Variant	nsv613291
Chromosome Location	chr9:8573166-8615045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:8588883..8590672-chr9:8594952..8596900,2	K562	blood:
2	chr17:56736327..56737912-chr9:8610474..8612821,2	MCF-7	breast:
3	chr9:8588883..8590672-chr9:8594952..8596900,2	K562	blood:

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 2100 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:2100 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511502	chr9:8573166-8573167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528028998	chr9:8573177-8573178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113734938	chr9:8573191-8573192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75005265	chr9:8573200-8573201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78271205	chr9:8573213-8573214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182398697	chr9:8573236-8573237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529750847	chr9:8573256-8573257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186789058	chr9:8573269-8573270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553834249	chr9:8573285-8573286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192664655	chr9:8573294-8573295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371648753	chr9:8573300-8573301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147933533	chr9:8573312-8573313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375086425	chr9:8573343-8573344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576254921	chr9:8573349-8573350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543276397	chr9:8573354-8573355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555123002	chr9:8573391-8573392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141702515	chr9:8573402-8573403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369591598	chr9:8573437-8573438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115358716	chr9:8573528-8573529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527689704	chr9:8573575-8573576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546139094	chr9:8573586-8573587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564639559	chr9:8573595-8573596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532003497	chr9:8573692-8573693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150488949	chr9:8573694-8573695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184947156	chr9:8573696-8573697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373376030	chr9:8573703-8573704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529036998	chr9:8573768-8573769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4742522	chr9:8573863-8573864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369133593	chr9:8573877-8573878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78258376	chr9:8573904-8573905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188863521	chr9:8573929-8573930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192945997	chr9:8573954-8573955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386732351	chr9:8573994-8573995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372720209	chr9:8573996-8573997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149042394	chr9:8573997-8573998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573498227	chr9:8574021-8574022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80197894	chr9:8574065-8574066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553859498	chr9:8574068-8574069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138625611	chr9:8574074-8574075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368852973	chr9:8574105-8574106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74844139	chr9:8574122-8574123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552473935	chr9:8574154-8574155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141626154	chr9:8574166-8574167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145305672	chr9:8574239-8574240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377728535	chr9:8574288-8574289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544118777	chr9:8574295-8574296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562313126	chr9:8574304-8574305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376993378	chr9:8574310-8574311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77212352	chr9:8574322-8574323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138024519	chr9:8574325-8574326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8557400-8575200	Weak transcription	Fetal Kidney	kidney
2	chr9:8570600-8576000	Enhancers	Fetal Lung	lung
3	chr9:8571200-8575400	Weak transcription	Brain Hippocampus Middle	brain
4	chr9:8571200-8576800	Weak transcription	Brain Angular Gyrus	brain
5	chr9:8571600-8573400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:8571600-8573600	Weak transcription	Brain Anterior Caudate	brain
7	chr9:8572000-8575800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:8572000-8579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:8572400-8573600	Weak transcription	Fetal Heart	heart
10	chr9:8572400-8575400	Weak transcription	Brain Substantia Nigra	brain
11	chr9:8573400-8574400	Enhancers	Brain Cingulate Gyrus	brain
12	chr9:8573600-8574200	Enhancers	Brain Anterior Caudate	brain
13	chr9:8573600-8574200	Enhancers	Fetal Heart	heart
14	chr9:8574200-8589600	Weak transcription	Brain Anterior Caudate	brain
15	chr9:8574400-8574600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:8574600-8574800	Enhancers	Brain Cingulate Gyrus	brain
17	chr9:8574800-8575200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:8575200-8577200	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:8575400-8575600	Enhancers	Fetal Kidney	kidney
20	chr9:8575400-8577000	Enhancers	Brain Substantia Nigra	brain
21	chr9:8575400-8577200	Enhancers	Brain Hippocampus Middle	brain
22	chr9:8575800-8576000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:8575800-8578800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr9:8576000-8582800	Weak transcription	Fetal Lung	lung
25	chr9:8576600-8613200	Weak transcription	Fetal Brain Female	brain
26	chr9:8576800-8577000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:8576800-8577200	Enhancers	Brain Angular Gyrus	brain
28	chr9:8577000-8577800	Weak transcription	Brain Substantia Nigra	brain
29	chr9:8577200-8578000	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:8577200-8578600	Weak transcription	Brain Angular Gyrus	brain
31	chr9:8577200-8580600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:8577800-8578000	Enhancers	Brain Substantia Nigra	brain
33	chr9:8578000-8578200	Enhancers	Brain Hippocampus Middle	brain
34	chr9:8578000-8578600	Weak transcription	Brain Substantia Nigra	brain
35	chr9:8578200-8580600	Weak transcription	Brain Hippocampus Middle	brain
36	chr9:8578600-8578800	Enhancers	Brain Angular Gyrus	brain
37	chr9:8578600-8579400	Enhancers	Brain Substantia Nigra	brain
38	chr9:8578800-8579200	Weak transcription	Brain Angular Gyrus	brain
39	chr9:8578800-8600000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:8579200-8581000	Enhancers	Brain Angular Gyrus	brain
41	chr9:8579400-8588000	Weak transcription	Brain Substantia Nigra	brain
42	chr9:8579600-8580000	Enhancers	NHEK	skin
43	chr9:8579600-8581000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:8579800-8580000	Enhancers	Fetal Muscle Leg	muscle
45	chr9:8580000-8588000	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:8580600-8580800	Enhancers	Brain Hippocampus Middle	brain
47	chr9:8580600-8581000	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:8582400-8582800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:8582800-8583600	Strong transcription	Fetal Lung	lung
50	chr9:8583000-8583400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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